Alzheimer's disease (AD) is a degenerative brain disease impairing a person's ability to perform day to day activities. The clinical manifestations of Alzheimer's disease are characterized by heterogeneity in age, disease span, progression rate, impairment of memory and cognitive abilities. Due to these variabilities, …
Disease phenotyping algorithms process observational clinical data to identify patients with specific diseases. Supervised phenotyping methods require significant quantities of expert-labeled data, while unsupervised methods may learn non-disease phenotypes. To address these limitations, we propose the Semi-Supervised …
The paper predicts diseases using both clinical and genomics data.
problem Clinical predictions using genomics data are not common.
method Integrated clinical and genomics datasets, machine learning, Principal Component Analysis for feature selection.
result 73% accuracy in predicting 75 disease classes.
New method uses probabilistic independence to discover disease signatures from medical records.
problem Insufficiently precise diagnosis of clinical disease leading to treatment failures.
method Unsupervised machine learning using probabilistic independence to disentangle disease patterns.
result Inferred 2000 clinical disease signatures from medical records, improving cancer prediction.
Clinical researchers use disease progression models to understand patient status and characterize progression patterns from longitudinal health records. One approach for disease progression modeling is to describe patient status using a small number of states that represent distinctive distributions over a set of obser…
AdaptiveNet tackles disease progression prediction in rheumatoid arthritis using deep neural networks.
problem Predicting disease progression in rheumatoid arthritis using clinical data.
method AdaptiveNet, a novel recurrent neural network architecture, that handles multiple lists of different events and missing data.
result AdaptiveNet outperforms classical baselines in disease progression prediction.
Method predicts biomarker trajectories with uncertainty bands for Alzheimer's disease.
problem Uncertainty in biomarker predictions poses risks in clinical deployment.
method Conformal prediction for randomly-timed biomarker trajectories.
result Conformal bands achieve desired coverage and are tighter than baseline.
In this work, we consider the problem of predicting the course of a progressive disease, such as cancer or Alzheimer's. Progressive diseases often start with mild symptoms that might precede a diagnosis, and each patient follows their own trajectory. Patient trajectories exhibit wild variability, which can be associate…
We introduce a wide and deep neural network for prediction of progression from patients with mild cognitive impairment to Alzheimer's disease. Information from anatomical shape and tabular clinical data (demographics, biomarkers) are fused in a single neural network. The network is invariant to shape transformations an…
Bayesian approach models neurodegenerative diseases without clinical labels.
problem Personalized, predictive modeling of neurodegenerative diseases.
method Probabilistic programmed deep kernel learning combining Gaussian processes and neural networks.
result Surpasses deep learning in accuracy and timeliness of predicting neurodegeneration.
Longitudinal patient data has the potential to improve clinical risk stratification models for disease. However, chronic diseases that progress slowly over time are often heterogeneous in their clinical presentation. Patients may progress through disease stages at varying rates. This leads to pathophysiological misalig…
CRBM generates digital twins for MS patients, aiding in disease progression analysis.
problem Characterizing and analyzing disease progression in MS patients.
method Unsupervised machine learning with Conditional Restricted Boltzmann Machines (CRBMs).
result Generated digital twins are statistically indistinguishable from actual subjects.
Transformers improve Alzheimer's disease progression prediction by accounting for irregular biomarker histories.
problem Difficult prediction of medium-horizon Alzheimer's disease progression due to tied clinical scores and irregular biomarker observations.
method Developed a residual gap-aware transformer that combines statistical reference with transformer-based residual learning.
result The proposed model reduces mean error and improves prediction-observation correlation compared to baseline models.
CoI framework models clinical feature interactions, revealing temporal dependencies and enhancing transparency.
problem Capturing latent, time-varying dependencies among clinical features in time-series data.
method Chain-of-Influence (CoI) framework constructs an explicit, time-unfolded graph of feature interactions.
result Achieves state-of-the-art predictive performance (AUROC of 0.960 on CKD progression and 0.950 on ICU mortality).
MAGIC uncovers disease heterogeneity across brain scales.
problem Understanding distinct subtypes of brain diseases at different spatial scales.
method Multi-scale Heterogeneity Analysis and Clustering (MAGIC) using semi-supervised clustering.
result Two main subtypes of AD identified with distinct atrophy patterns.
Paper proposes machine learning model for early Alzheimer's diagnosis.
problem Early and accurate diagnosis of Alzheimer's Disease.
method Machine learning models, demographic, biomarker, and cognitive test data.
result 90% accuracy and 87% accuracy in predicting Alzheimer's development.
Alzheimer's disease (AD) is the most common neurodegenerative disease in older people. Despite considerable efforts to find a cure for AD, there is a 99.6% failure rate of clinical trials for AD drugs, likely because AD patients cannot easily be identified at early stages. This project investigated machine learning app…
Enhances generative model for clinical data privacy and accuracy.
problem Data privacy in electronic patient records.
method Improves a time-series generative model with privacy safeguards.
result DP-TimeGAN achieves a mean authenticity of 0.778 on the CKD dataset.
We develop a model to cluster time-series data with interval censoring, improving disease phenotyping.
problem Noise and interval censoring hinder clustering in disease phenotyping.
method Deep generative, continuous-time model that clusters time-series data while correcting for censorship.
result Our model corrects for interval censoring and recovers known clinical subtypes.
CASCADE improves uncertainty communication in Parkinson's disease medication management.
problem Uncertainty in clinical decision-making for Parkinson's disease patients.
method CASCADE uses a novel conformal prediction framework to adaptively scale prediction intervals based on classification uncertainty.
result CASCADE produces more efficient and robust prediction intervals for Parkinson's disease patients.
Pairwise ranking aligns subjective clinical evaluations with objective indicators.
problem Aligning subjective clinical evaluations with objective indicators for improved diagnosis.
method Pairwise ranking methods to align subjective evaluations with objective indicators.
result The resulting score improves classification accuracy and provides a nuanced severity assessment.
Medical researchers are coming to appreciate that many diseases are in fact complex, heterogeneous syndromes composed of subpopulations that express different variants of a related complication. Time series data extracted from individual electronic health records (EHR) offer an exciting new way to study subtle differen…
Model learns to select relevant clinical variables for disease subtype prediction from small data.
problem Few-shot disease subtype prediction from small genomic data.
method Meta learning Prototypical Network with feature selection and sample reweighting.
result Superior performance in predicting disease subtypes and identifying genes.
Rare diseases affect a relatively small number of people, which limits investment in research for treatments and cures. Developing an efficient method for rare disease detection is a crucial first step towards subsequent clinical research. In this paper, we present a semi-supervised learning framework for rare disease …
AI detects heart disease from ECGs with improved interpretability and performance.
problem Undiagnosed structural heart disease due to high cost and accessibility of echocardiography.
method Generalized additive model integrating clinically meaningful ECG predictors.
result Improved AUROC, AUPRC, and F1 score compared to deep-learning baselines.
Novel method identifies proteomic risk markers for Alzheimer disease.
problem Lack of comprehensive proteomic risk markers for Alzheimer disease diagnosis.
method Deep belief network-based feature selection method using proteomic and clinical data.
result Identified an optimal subset of proteins achieving 90% accuracy in Alzheimer disease diagnosis.
New method interprets deep embeddings for diabetes patient clustering.
problem Interpreting deep embeddings for disease progression.
method Patient clustering approach using deep embeddings.
result Clinically meaningful insights into diabetes progression patterns.
Disease progression models are instrumental in predicting individual-level health trajectories and understanding disease dynamics. Existing models are capable of providing either accurate predictions of patients prognoses or clinically interpretable representations of disease pathophysiology, but not both. In this pape…
Most approaches to machine learning from electronic health data can only predict a single endpoint. Here, we present an alternative that uses unsupervised deep learning to simulate detailed patient trajectories. We use data comprising 18-month trajectories of 44 clinical variables from 1908 patients with Mild Cognitive…
Ability to quantify and predict progression of a disease is fundamental for selecting an appropriate treatment. Many clinical metrics cannot be acquired frequently either because of their cost (e.g. MRI, gait analysis) or because they are inconvenient or harmful to a patient (e.g. biopsy, x-ray). In such scenarios, in …
Deep learning model creates patient representations for scalable EHR-based stratification.
problem Challenges in summarizing and representing patient data from EHRs prevent scalable stratification analysis.
method Unsupervised framework based on deep learning (ConvAE) using word embeddings, CNNs, and autoencoders.
result ConvAE significantly outperformed baselines in clustering diverse patient cohorts, identifying clinically relevant subtypes.
We introduce a probabilistic generative model for disentangling spatio-temporal disease trajectories from series of high-dimensional brain images. The model is based on spatio-temporal matrix factorization, where inference on the sources is constrained by anatomically plausible statistical priors. To model realistic tr…
MGMC method handles missing data in medical datasets for accurate disease classification.
problem Handling missing data in incomplete medical datasets for accurate disease classification.
method Multigraph Geometric Matrix Completion (MGMC) using multiple graph convolutional networks.
result MGMC achieves superior classification and imputation performance compared to state-of-the-art approaches.
WEST uses EHRs and expert cases to improve rare disease phenotyping.
problem Limited labeled data for rare diseases.
method Weakly supervised transformer model trained on probabilistic silver-standard labels.
result WEST outperforms existing methods in phenotype classification and subphenotyping.
Machine learning classifies Parkinson's Disease stages from walker sensors data.
problem Limited cost-effective methods for quantitatively assessing Parkinson's Disease stages.
method Machine learning applied to walker-mounted sensors data, feature selection methods compared.
result Feature selection method using ANOVA provides similar accuracy to full feature set and is clinically interpretable.
Bayesian method improves clinical trial efficiency.
problem Increase treatment effect estimates in clinical trials.
method Combines prognostic covariate adjustment with a Bayesian framework.
result Substantial increase in statistical power with controlled type I error.
Machine learning aids in diagnosing Parkinson's disease with higher accuracy.
problem Subjectivity in traditional PD diagnosis methods and missed early symptoms.
method Machine learning applied to various data modalities for PD and control group classification.
result Machine learning methods show high potential for improving PD diagnosis.
Deep learning ensemble improves Alzheimer vs. Mild Cognitive Impairment diagnosis.
problem Differentiating Alzheimer Disease from Mild Cognitive Impairment.
method Hybrid deep learning ensemble framework using MRI slices, pretrained models, and stacked ensemble learning.
result State-of-the-art accuracy (99.21%) for Alzheimer vs. Mild Cognitive Impairment classification.
Study improves mortality prediction in hospital patients using comprehensive feature engineering.
problem Accurate prediction of all-cause in-hospital mortality in healthcare.
method Comprehensive feature engineering approach using vital signs, laboratory results, and demographic data.
result Random Forest model achieved highest performance with AUC of 0.94, significantly outperforming other models.
Ensemble model predicts AD progression from CN status with high accuracy.
problem Early prediction of clinical progression from cognitively normal to mild cognitive impairment or Alzheimer's disease.
method Ensemble survival analysis combining penalized Cox regression, advanced survival models, and aggregation techniques.
result Ensemble model achieved peak C-index of 0.907 and integrated time-dependent AUC of 0.904, outperforming baseline models.
Paper uses ML to classify liver diseases from clinical data.
problem Classifying liver diseases from clinical data.
method Multiple imputation, PCA, data visualizations, binary classifier algorithms (ANN, RF, SVM).
result SVM showed better accuracy (98.23%).
Study examines APOE's impact on AD progression using a novel DEBM approach.
problem Understanding APOE's role in AD progression and developing targeted clinical trials.
method Developed a discriminative event-based model (DEBM) and proposed a stratified approach to improve model accuracy.
result Identified APOE carriers' impact on AD progression timeline, aiding clinical trial selection.
In this work, we present our various contributions to the objective of building a decision support tool for the diagnosis of rare diseases. Our goal is to achieve a state of knowledge where the uncertainty about the patient's disease is below a predetermined threshold. We aim to reach such states while minimizing the a…
Clinical AI models fail to transfer between sites due to site-specific practices.
problem Clinical AI models perform poorly at new sites.
method Identify and isolate site-specific clinical practices affecting data distribution.
result A potential solution to improve model transferability.
Conventional inclusion criteria used in osteoarthritis clinical trials are not very effective in selecting patients who would benefit from a therapy being tested. Typically majority of selected patients show no or limited disease progression during a trial period. As a consequence, the effect of the tested treatment ca…
Machine learning improves CHD screening accuracy from 70% to 87.7%.
problem Predicting coronary heart disease using echocardiography and clinical features.
method Ensemble machine learning approach with model stacking and two-step stacking.
result Improved CHD classification accuracy from 70% to 87.7%.
In this paper, we seek a clinically-relevant latent code for representing the spectrum of macular disease. Towards this end, we construct retina-VAE, a variational autoencoder-based model that accepts a patient profile vector (pVec) as input. The pVec components include clinical exam findings and demographic informatio…
Enhancing spectral embedding for low-dimensional embeddings in rare disease cohorts
problem Representing clinical concepts and patients in electronic health records
method Spectral-based unsupervised learning with flexible knowledge transfer
result Outperforms competing approaches in challenging scenarios